Variant report

Variant	rs6939751
Chromosome Location	chr6:163839527-163839528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr6:163839332-163839718	MCF10A-Er-Src	breast:	n/a	n/a
2	TBL1XR1	chr6:163839505-163840983	K562	blood:	n/a	n/a
3	ZNF384	chr6:163836894-163839662	K562	blood:	n/a	n/a
4	ZNF384	chr6:163839438-163839582	GM12878	blood:	n/a	n/a
5	IRF1	chr6:163836838-163839596	K562	blood:	n/a	chr6:163837498-163837512 chr6:163837425-163837441 chr6:163837502-163837512 chr6:163837502-163837516 chr6:163837499-163837516 chr6:163837500-163837513 chr6:163837499-163837513 chr6:163837496-163837510 chr6:163837494-163837514 chr6:163837502-163837513 chr6:163837500-163837513 chr6:163838093-163838100
6	ARID3A	chr6:163839394-163841682	K562	blood:	n/a	chr6:163840686-163840702
7	MYC	chr6:163839306-163839562	MCF10A-Er-Src	breast:	n/a	n/a
8	CUX1	chr6:163837628-163839565	K562	blood:	n/a	chr6:163839091-163839105 chr6:163839088-163839104
9	POLR2A	chr6:163839347-163839767	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:163838578..163840743-chr6:164003751..164005658,2	K562	blood:
2	chr6:163838995..163843341-chr6:163850269..163853237,5	K562	blood:
3	chr6:163836144..163840696-chr6:163983068..163987938,4	K562	blood:
4	chr6:163837764..163839976-chr6:164521625..164524241,2	K562	blood:

Variant related genes	Relation type
CAHM	TF binding region
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12110648	1.00[AMR][1000 genomes]
rs56377162	1.00[AMR][1000 genomes]
rs6934643	1.00[AMR][1000 genomes]
rs6939555	1.00[AMR][1000 genomes]
rs73784468	1.00[AMR][1000 genomes]
rs73784479	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787632	1.00[AMR][1000 genomes]
rs7742678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753923	1.00[AMR][1000 genomes]
rs7765302	1.00[AMR][1000 genomes]
rs9784871	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
4	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
5	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
8	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
9	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:163833400-163841400	Active TSS	NHLF	lung
12	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
13	chr6:163833600-163839600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:163833600-163840000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:163833600-163840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:163833600-163841400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:163833600-163841400	Active TSS	HSMM	muscle
18	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
19	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:163833800-163839800	Active TSS	Left Ventricle	heart
21	chr6:163833800-163840000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:163833800-163840800	Active TSS	K562	blood
23	chr6:163833800-163841600	Active TSS	Ovary	ovary
24	chr6:163834000-163840800	Active TSS	GM12878-XiMat	blood
25	chr6:163834200-163841000	Active TSS	HMEC	breast
26	chr6:163834200-163841400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:163835000-163841600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:163836200-163839600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:163836200-163840800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:163836200-163840800	Active TSS	Fetal Heart	heart
31	chr6:163836200-163841400	Active TSS	Brain Anterior Caudate	brain
32	chr6:163836200-163841400	Active TSS	Brain Substantia Nigra	brain
33	chr6:163836200-163843400	Active TSS	Brain Angular Gyrus	brain
34	chr6:163836800-163841400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:163837000-163840400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:163837000-163840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:163837000-163841400	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr6:163837000-163843400	Active TSS	Right Atrium	heart
39	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
40	chr6:163837800-163840800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:163837800-163840800	Weak transcription	Stomach Mucosa	stomach
42	chr6:163837800-163842000	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:163837800-163842200	Active TSS	Brain Hippocampus Middle	brain
44	chr6:163837800-163843400	Weak transcription	Gastric	stomach
45	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
46	chr6:163838000-163839800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:163838000-163840000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:163838000-163840200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:163838000-163840400	Active TSS	Fetal Brain Male	brain
50	chr6:163838000-163840600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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